R2* (p.Arg2Ter) variant of ITGB3 (Integrin beta-3)
R2* (p.Arg2Ter) in ITGB3 (Integrin beta-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R2* (p.Arg2Ter) variant details
- p.Arg2Ter
- gnomAD 17-47253865-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 43.00
- Population evidence available
- Structural context available
- Literature evidence available